Takeda Kenichiro, Sekine Ayumi, Tanabe Nobuhiro, Sugiura Toshihiko, Shigeta Ayako, Kitahara Shinsuke, Imai Shun, Okaya Tadasu, Nagata Jun, Naito Akira, Sakao Seiichiro, Tatsumi Koichiro, Suzuki Takuji
Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan.
Department of Respirology, Chibaken Saiseikai Narashino Hospital, Narashino, Japan.
Respir Med Case Rep. 2023 Mar 4;42:101829. doi: 10.1016/j.rmcr.2023.101829. eCollection 2023.
p.Arg4810Lys is linked to various vascular diseases, including pulmonary arterial hypertension (PAH); however, its pathogenesis remains unclear. Here, we report the unique features of two cases of severe PAH with this variant: one is the first reported case with stenosis of the thoracic and abdominal aorta, femoral arteries, and subclavian veins. Coexistence of severe and continuous eosinophilic inflammation, which has been suspected to be implicated in the pathogenesis of PAH in previous fundamental studies, was also present in both cases. Further studies are needed to clarify the pathogenetic mechanisms in vascular lesions with this variant.
p.Arg4810Lys与包括肺动脉高压（PAH）在内的多种血管疾病相关；然而，其发病机制仍不清楚。在此，我们报告了两例携带此变异的严重PAH病例的独特特征：一例是首例报告的伴有胸主动脉、腹主动脉、股动脉和锁骨下静脉狭窄的病例。两例病例均存在严重且持续的嗜酸性粒细胞炎症，在先前的基础研究中怀疑其与PAH的发病机制有关。需要进一步研究以阐明携带此变异的血管病变的发病机制。
